Q21* (p.Gln21Ter) variant of HFE (Q30201)
Q21* (p.Gln21Ter) in HFE (Q30201) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs1762359467
- gnomAD 6-26087516-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- MetaLR 0.01
- MetaSVM -0.73
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available